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Related Concept Videos

Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...
Genetic Lingo01:11

Genetic Lingo

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Related Experiment Video

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Efficient and Scalable Production of Full-length Human Huntingtin Variants in Mammalian Cells using a Transient Expression System
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Predictive testing for Huntington disease in a developing country.

M J Futter1, J M Heckmann, L J Greenberg

  • 1Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Observatory, South Africa. merle.futter@uct.ac.za

Clinical Genetics
|June 21, 2008
PubMed
Summary

Predictive testing for Huntington disease (HD) uptake was low overall, particularly among mixed-ancestry individuals, suggesting access barriers. Strategies are being implemented to improve genetic counseling services for this population.

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Related Experiment Videos

Last Updated: Jul 4, 2026

Efficient and Scalable Production of Full-length Human Huntingtin Variants in Mammalian Cells using a Transient Expression System
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Published on: December 10, 2021

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07:08

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Area of Science:

  • Genetics
  • Medical Genetics
  • Neurogenetics

Background:

  • Huntington disease (HD) predictive testing offers individuals at-risk insight into their genetic status.
  • Genetic counseling services are crucial for supporting individuals undergoing predictive testing.

Purpose of the Study:

  • To profile participants undergoing predictive testing for Huntington disease (HD) in the Western Cape from 1995-2005.
  • To analyze sociodemographic data, test uptake, and outcomes to enhance genetic counseling services.

Main Methods:

  • Retrospective cross-sectional study utilizing a multi-method approach (qualitative and quantitative).
  • Data collection involved hospital files, genetic databases, and face-to-face psychosocial interviews.
  • Analysis of sociodemographic factors, test uptake rates, and genetic results.

Main Results:

  • A total of 36 predictive tests for HD were performed, with an uptake of approximately 4.5% of the at-risk population.
  • The cohort (n=27) comprised 16 females and 11 males, with a mean age of 35.3 years.
  • 11 individuals tested gene-positive, 15 gene-negative, and 1 showed reduced penetrance; mixed-ancestry individuals had substantially lower uptake than White individuals.

Conclusions:

  • Lower uptake in mixed-ancestry populations may stem from socioeconomic factors like income and education, limiting access to predictive testing programs.
  • Strategies to improve access and support for diverse populations have been integrated into genetic counseling services.
  • Ongoing evaluation of these strategies is planned to ensure program effectiveness and equity.